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Index of Glossary Terms

2

Obtain a collection container from your doctor or the laboratory and follow the directions you are given for collecting your samples. To preserve the substance to be tested, the container may need to be refrigerated during the entire collection process. After getting up in the morning, empty your bladder and discard that urine. Note the time. For the next 24 hours, save all urine voided in the container provided. When 24 hours are over, empty your bladder and ADD this urine to the container. Note the time. Bring all of the urine collected to the lab or doctor's office. If you miss collecting one or more voids, consult your doctor or the laboratory for further instructions.

The reason a 24-hour urine sample may be requested instead of a random urine sample is because amounts of various substances in the urine changes during the course of a day. By collecting all urine for 24 hours, the amount of the substance being measured in the urine can be averaged over the entire day and will give a better indication of what is going on in the body.

A compound that contains at least one hydrogen atom and can react with a base to form a salt; a chemical with a pH less than 7. An example of acid in the body is hydrochloric acid (HCl) involved in digestion in the stomach.

The body's maintenance of a healthy pH range for blood and tissues that is slightly basic (pH between 7.35 - 7.45). This balance is achieved through the use of systems in the blood (which help to minimize pH changes) and by the lungs and kidneys, which eliminate excess amounts of acids or bases from the body.

A condition in which there is a shift in the acid-base balance of the body to have more acid than normal, often causing the pH of the blood and body tissues to fall below the healthy range (7.35-7.45). It may be caused by decreased CO2 eliimination in respiratory disorders such as emphysema, by metabolic problems such as kidney disease and diabetes, or as the result of ingesting poisons (ethlylene glycol, methanol) or overdosing on certain medication (salicylates); it can also be caused by losing HCO3, as in diarrhea.

A condition in adults resulting from excess growth hormone characterized by enlargement of the hands and feet, change in shoe size, gradual changes in facial features, including protrusion of the lower jaw and brow, and enlargement of the nasal bone

1. A condition or illness that usually has a rapid onset of symptoms and may resolve within days with or without treatment. It is the opposite of chronic.
2. A condition or illness that is sudden or severe.

A group of potentially life-threatening disorders resulting from insufficient blood flow to the heart caused by the narrowing or blockage of one or more blood vessels to the heart; the conditions included in this group range from unstable angina to heart attack and are usually characterized by chest pain, upper body discomfort with pain in one or both arms, shoulders, stomach or jaw, shortness of breath, nausea, sweating or dizziness.

bone marrow disease that is characterized by the production of large numbers of an immature granulocyte (a neutrophil -- the most common, basophil, or eosinophil) that replace other normal cells in the marrow.

One of a pair of glands located above each kidney that secretes hormones directly into the bloodstream. Each gland has two parts that perform different functions.
1. The adrenal cortex produces and secretes hormones such as cortisol, aldosterone and sex steroids. They are involved in many different body functions.
2. The adrenal medulla produces and secretes catecholamines such as adrenaline (epinephrine) and norepinephrine.

A condition in which a there is a shift in the acid-base balance of the body to have more base than normal, often causing the pH of the blood and body tissues to rise above the healthy range (7.35-7.45). It may have respiratory causes such as hyperventilation and pneumonia or metabolic causes such as prolonged vomiting and severe dehydration.

Sex organs (genitals) that are not distinctly male or female in appearance. It is a condition present at birth (congenital) that results from a disruption in the formation of sex organs during fetal development.

Severe allergic reaction that can cause intensely itchy welts (hives) on the skin, low blood pressure, and difficulty breathing. Anaphylaxis can be life-threatening so those who have been affected by it may be advised to carry an emergency injection of epinephrine.

Hormones that are responsible for the induction of sexual differentiation and produce secondary male physical characteristics such as a deep voice and facial hair. An example is the hormone testosterone. They are also present in females as precursors to female hormones (such as estrogen).

Medical procedure used to widen blood vessels that have been narrowed or blocked. During the procedure, a balloon-tipped catheter is inserted into the body (usually through a small incision in the groin). The catheter is guided to the site of the blockage using X-rays and injected dye. The balloon on the catheter is then gently inflated to flatten the blockage and open the blood vessel.

1. Drug that delays blood clotting (e.g., heparin, warfarin); used in patients with or at risk for blood clots 2. Substance used to prevent clotting in blood used for transfusions and certain laboratory tests

1. Substance that causes the production of an antibody that binds to the antigen in order to damage, neutralize or kill it.
2. The presence of certain antigens on blood cells is the basis for blood typing for transfusions. Antigens that are present on tissue allow for donor-recipient matching in transplant medicine.

A class of drugs that is used to treat allergies, hypersensitivity reactions, and the symptoms of colds. These drugs work by reducing the effects of histamine, a naturally-occurring substance that is released in response to inflammation and allergies.

Process of removing a specific component from blood, such as platelets or white blood cells, and returning the remaining components to the donor; allows for more of one particular component to be collected than could be separated from a unit of whole blood

General term for a protein without its characteristic prosthetic group, which may be a metal or a small organic compound; for example, the protein apotransferrin combines with iron to form transferrin, and protein apoceruloplasmin combines with copper to form the enzyme ceruloplasmin.

Common disorder of the arteries in which deposits consisting mostly of cholesterol and lipids form on the inner arterial wall. As a result, the vessels become nonelastic and narrowed, leading to decreased blood flow. One of the most important examples is coronary artery disease.

B

1) Substance that has a hydroxyl (OH) ion, tastes bitter, has a pH greater than 7 and, when combined with an acid, forms a salt; example of a base is ammonia
2) One of the building blocks of DNA and RNA

Type of white blood cell (leukocyte), with coarse granules that stain blue when exposed to a basic dye. Basophils normally constitute 1% or less of the total white blood cell count but may increase or decrease in certain diseases.

1. Mild, non-cancerous, and/or not spreading (compareMalignant), as of a disease or growth, esp. a benign tumor. 2. Associated with disease or condition that has mild or minimal consequences for the patient.

A group of drugs that blocks the effect of adrenaline, slows the heart rate, and decreases the strength of the heart's contractions and thereby lowers blood pressure and relieves symptoms of angina and arrhythmias

Thick, yellow-green-brown fluid made by the liver, stored in the gallbladder, and discharged into the upper part of the digestive tract (duodenum), where it dissolves fats, preparing them for further digestion.

Abnormally-shaped red blood cells with one or more semicircular portions removed from the cell margin, appearing as though the cells have had "bite" or "bites." The "bites" result from the removal of hemoglobin with an altered structure (denatured) by special cells (macrophages) in the spleen. G6PD deficiency is a common disorder that leads to the formation of bite cells, which can be seen in a stained blood smear.

Specialized soft tissue found within bone. Red bone marrow, widespread in the bones of children and found in some adult bones (e.g., pelvis, spine, ribs), is essential for the formation of mature red blood cells. Fat-laden yellow bone marrow, more common in adults, is found primarily at the ends of long bones.

A condition in which the airways are stretched and/or widened that can be caused by recurrent inflammation or infection of the airways and results in symptoms such as bluish skin, coughing and wheezing, and shortness of breath

C

To adjust the output or reading from a testing device to assure that it gives a correct answer; the adjustment is based on measurement of one or more known substances called standards (or calibrators).

The tiniest of blood vessels. Through the one-cell-layer-thick walls of capillaries, oxygen and nutrients are delivered to body tissues and carbon dioxide and other wastes are cleared from body tissues.

A collection of boils caused by an infection of a large area of skin involving several hair follicles and deeper layers of tissue; the area often has several openings for pus drainage and sloughing dead tissue

A computed tomography (CT) scan of the arteries leading to the heart. The scan provides images of calcium deposits that can narrow or block the arteries. The higher the cardiac calcium score, the more likely the patient has heart disease or will be at higher risk for heart attack.

1. long, thin, flexible tube inserted into a body cavity or vessel to allow the passage of fluids 2. thin, flexible tube inserted into a vessel in the body for the purpose of opening (distending) the vessel

Legal document created when a piece of evidence is obtained that records the movement, location, handling and/or testing of the evidence from the time it is collected until the evidence is used in a legal proceeding and/or until it is no longer needed and is discarded or destroyed

Binding of a metal ion by a large molecule to form a soluble complex; chelation therapy uses large molecules such as EDTA (ethylene diamine tetraacetic acid) to remove excess metals (like lead or iron) from tissues and enable their excretion.

In the treatment of cancer, the use of medicines or drugs to stop or slow the growth of cancer cells; because chemo can also harm healthy cells, it can be associated with side effects, such as fatigue, hair loss, mouth sores, and nausea/vomiting.

This test is not routinely performed but may be discussed with or offered to pregnant women who are at an increased risk of having a baby with certain chromosome disorders, such as Down syndrome, or genetic abnormalities, such as cystic fibrosis. Between the tenth and twelfth week of pregnancy, a chorionic villus sampling (CVS) procedure can be performed in which either a needle inserted through the woman’s abdomen or a tube inserted through the woman’s vagina and cervix is used to obtain a tissue sample from the placenta. These cells have the same genetic makeup as the fetus and are analyzed for chromosome disorders and gene abnormalities.

Threadlike structure in every cell nucleus that carries the inheritance factors (genes) composed of DNA (deoxyribonucleic acid, the gene material) and a protein (usually histone). A human cell normally contains 46 chromosomes, or 22 homologous pairs and 1 pair of sex chromosomes; one member of each pair of chromosomes is derived from each parent.

A water-soluble form of bilirubin formed in the liver by the chemical addition of sugar molecules to unconjugated bilirubin; when present in the blood, conjugated bilirubin can become chemically bound to albumin, forming delta-bilirubin (also known as biliprotein).

The microscopic assessment of individual cells or groups of cells that are either shed in body fluids or collected by smears and scrapings (e.g., the Pap smear) or by aspiration from deeper tissues through a very fine needle

A disorder similar to diabetes mellitus in that it causes symptoms such as increased thirst and increased urine production, but differing in cause, frequency, treatment, and associated complications; diabetes insipidus results from a lack of production of arginine vasopressin (also called antidiuretic hormone or ADH) by the pituitary or a lack of response of the kidneys to ADH, causing an inability of the kidneys to conserve water. It can lead to severe dehydration and high serum sodium if inadequately treated. Diabetes inspididus is a much more rare condition than diabetes mellitus.

Symptoms such as nausea, cramping, sweating, and weakness that may occur when the stomach contents are emptied rapidly into the small intestine before being digested; may occur in patients who have had gastric resections or bypass surgery

E

A species of bacteria that normally resides in the gastrointestinal tract as harmless normal flora; these rod-shaped bacteria commonly cause urinary tract infections, and some strains produce toxins that cause diarrheal disease.

Embolism— a condition in which material (tissue, fat, air, blood clot, etc.—called an embolus) travels through the bloodstream and then becomes lodged in a vein or artery and blocks the flow of blood through that blood vessel.

Thromboembolism—a blood clot (thrombus) that breaks free in the blood stream and blocks a blood vessel. This can occur in a vein (venous thromboembolism) or in an artery (arterial thromboembolism).

Chronic progressive lung disease in which air sacs (alveoli) in the lungs are damaged, resulting in loss of elasticity and function of the lungs; the condition is characterized by shortness of breath and may be accompanied by a cough. It may eventually lead to heart damage.

Condition marked by the presence, growth, and function of endometrial tissue (lining of the uterus) outside of its normal location in such sites as the uterine walls, the fallopian tubes, the ovaries, and other sites within the pelvis or, rarely, out of the pelvic region

Leukocyte (white blood cell) with granules that are stained by the dye, eosin. Eosinophils, normally about 1-3% of the total white blood cell count, are believed to function in allergic responses and in resisting some infections.

The body uses feedback systems to control certain functions. A feedback system uses one of the products of a pathway, usually the end product, to control the activity of the pathway and to regulate the amount of that product. Feedback control may be positive or negative.

To understand negative feedback, think of how the thermostat in your house controls the temperature. Lets say that the thermostat is set at 70 degrees F (the end product concentration). When the temperature falls below 70 degrees F, the feedback system is triggered and the furnace lights and starts to pump warm air into the house. When the air in the house reaches 70 degrees F, the thermostat shuts off the furnace (no more product made; no more hot air generated). A negative feedback system maintains a steady state or equilibrium and is the one most commonly found in the body.

Positive feedback systems increase the rate of formation of the product. This tends to cause change in the system rather than maintain a steady state. Think of how when a person works hard and is praised for their efforts (given positive feedback), they work harder still, expecting more praise. There are very few positive feedback systems in the body. One example, however, is lactation. The suckling action of an infant produces prolactin, which leads to milk production; more suckling leads to more prolactin, which in turn leads to more lactation. This is a positive feedback system as the product (milk) produces more suckling and more hormone. When the child is no longer breast feeding, the prolactin drops off and milk production goes down.

The most common inherited cause of mental retardation; takes its name from the appearance of the stained X chromosome under a microscope – there is a site near the end of this chromosome that does not stain, indicating its fragility. The gene in the fragile region is important in making a special protein needed by developing brain cells.

Functional testing is used to determine whether or not a specific substance is properly performing its biological role in the body and to what extent. This testing can determine how well a specific coagulation factor is performing its role in the coagulation cascade; for example, normal amounts of fibrinogen can be present, but if not working properly, abnormal coagulation results. Functional testing can also determine the correct level of activity of other substances such as hormones and enzymes.

Plural: FungiOne of the four major groups of microorganisms (bacteria, viruses, parasites and fungi) that occurs in nature as a yeast (small unicellular structure similar to bacteria) or a mold (large filamentous forms that may be seen with the naked eye)

Plural: glomeruli; one of a number of specialized structures in the kidney, composed of loops of specialized capillaries that filter blood, allowing small substances to pass through towards the urine but preventing loss of larger proteins and blood cells.

Special form of chronic inflammation; often forms one or more nodules that can involve the skin, lymph nodes, lung, liver, spleen, or other organs. Granulomas often form in response to certain types of infection (especially to mycobacteria such as in tuberculosis and to fungi) or to foreign bodies, but sometimes have no known cause, as in sarcoidosis.

Transplantation of the cells that are able to develop into all the types of blood cells; hematopoietic stem cells are usually obtained from circulating blood (peripheral), bone marrow, or umbilical cord blood. This type of transplant may use the person's own stem cells (autologous) or stem cells from a donor (allogenic).

A condition in which antibodies in a pregnant woman's blood cross the placenta and destroy her baby's red blood cells; develops when the mother and baby have differences in one or more blood group antigens

A life-threatening condition that may result from the breakdown (hemolysis) of a large number of red blood cells (RBCs) and damage to the kidneys (uremia). Most often it presents as a complication of an infection of the digestive tract caused by certain bacteria that produce a toxin that enters the bloodstream and destroys RBCs. This syndrome is most commonly associated with infections caused by shiga toxin-producing Eschericha coli (STEC), but may also result from infections caused by Salmonella and Shigella, other types of infections, and sometimes from non-infectious causes.

Cancer that originates in the cells of the liver; this type of cancer may develop in those who have certain forms of cirrhosis or who have had a hepatitis B or hepatitis C infection; may develop years after initial infection.

A chemical substance produced and secreted by endocrine (ductless) glands that travels through the bloodstream and controls or regulates the activity of another organ or group of cells - its target organ. (For example, growth hormone released by the pituitary gland controls the growth of long bones of the body.) There are two main types of hormones - steroids (e.g., estrogen, testosterone, aldosterone, cortisol) and nonsteroidal. Secretion of hormones is regulated by feedback mechanisms and neurotransmitters.

Group of proteins present on the surface of white blood cells (leukocytes) and other nucleated cells (containing a nucleus). These proteins help the body’s immune system to identify its own cells and to distinguish between “self” and “nonself.” Each person has an inherited combination of HLA antigens and, while not as unique as a fingerprint, the presence or absence of each antigen creates a distinctive HLA combination for each person. HLA antigens are divided into types: Class I (A, B, C) and Class II (DR, DP, DQ).

A condition characterized by an overproduction of parathyroid hormone (PTH), a hormone that controls calcium and phosphate levels in blood and calcium in bone; it is made by the parathyroid glands. Primary hyperparathyroidism causes high calcium and low phosphate levels, and can cause kidney stones occasionally. Secondary hyperparathyroidism is caused by low levels of calcium or vitamin D, or high levels of phosphate; it is commonly caused by chronic kidney disease. Either form can cause osteoporosis or bone pain.

An increase in the number of cells in an organ, causing enlargement of that organ; this term most often refers to glandular organs, such as the prostate and the adrenal glands. Hyperplasia can produce problems related to a gland's larger size (as in benign prostatic hyperplasia) or excess functioning of the gland (as in adrenal hyperplasia).

A condition characterized by underactivity of the parathyroid glands and reduced production of parathyroid hormone (PTH), a hormone that controls calcium and phosphate levels in blood and calcium in bone. Symptoms may include tingling in the fingers and toes, muscle aches and spasms, fatigue, dry skin and brittle nails, headaches, anxiety, and depression.

Area of the brain located just above the brainstem that controls the pituitary gland and regulates many bodily functions, such as body temperature, hunger, thirst, sleep, and mood through the release of hormones

I

The body's means of protection against microorganisms and other foreign substances; it is composed of two major parts: the humoral response (B lymphocytes and production of antibodies) and the cell-mediated response (T lymphocytes that attack foreign substances directly).

One of the five classes of immunoglobulins; one of the most common immunoglobulins, it is mainly present in body secretions and is the chief antibody in the mucous membranes of the gastrointestinal and respiratory tract and in saliva and tears.

One of the five classes of immunoglobulins; it is present primarily in the skin and mucous membranes and is believed to function in response to environmental antigens and to play a role in allergic reactions.

One of the five classes of immunoglobulins; a large molecule, it is found in blood and is involved in combating blood infections. It is the first or primary immunoglobulin produced following exposure to an antigen.

1) Special proteins produced by the body in response to foreign substances including bacteria and viruses; there are five structurally distinct classes of immunoglobulins produced by plasma cells in the bone marrow and other lymphoid tissue that bind to and neutralize foreign substances (antigens). The five major kinds of immunoglobulins are A, D, E, G and M.

2) A solution made from human blood plasma that contains concentrated antibodies that protect against specific diseases, such as short-term protection against certain infections and Rh sensitization during pregnancy; it is made from human blood plasma that has been pooled, processed from donated blood, and purified.

The response of body tissues to injury such as trauma or infection. Inflammation is a complex process that can be localized or systemic. When localized, it causes pain, heat, swelling and redness of the affected area; when systemic, it may present as a general feeling of malaise with fatigue and fever.

Specialized cells in the pancreas that produce and secrete one of several hormones that affect certain body functions; some examples include alpha cells that produce glucagon and beta cells that produce insulin.

J

Point where two or more bones meet in the body; they allow the body to be flexible and are classified by their range of movement: immovable (fibrous) do not move, such as in the skull, slightly movable (cartilaginous) as in the vertebrae in the spine, or freely movable (synovial) as in the knees and elbows, which move in many directions and are further classified as hinge, pivot or ball-and-socket joints.

K

Abnormal increase of acid in the blood due to accumulation of substances derived from metabolism of fat (ketone bodies); usually due to severe insulin deficiency in diabetes or to prolonged lack of carbohydrate intake

A rare genetic condition in boys and men caused by an extra X chromosome. (Males normally have one X and one Y chromosome.) The presence of the extra X chromosome may or may not produce obvious signs and symptoms (usually in teens and adults), such as low testosterone, small penis and testicles, enlarged breasts, tall stature and/or behavioral, learning, speech or language disabilities. Most of these individuals are infertile.

L

Condition or infectious agent that is present in the body but not causing symptoms and/or actively multiplying; the condition may progress from a latent to active form if the immune system of the patient is no longer able to hold the condition or infection in check.

Any of a group of fats and fat-like substances, including oils, waxes, steroids, and triglycerides. Lipids are easily stored in the body, and triglycerides serve as a fuel source. Some (such as cholesterol and phospholipids) are an important constituent of cell structures and are involved in many biological functions. Lipids can combine with other compounds to form complexes, such as lipoproteins, phospholipids, and glycolipids.

The lumbar puncture (also known as spinal tap) is usually performed while you are lying on your side in a curled up fetal position but may sometimes be performed in a sitting position. It is important that you remain still during the procedure.

Once you are in the correct position, your back is cleaned with an antiseptic and a local anesthetic is injected under the skin. When the area has become numb, a special needle is inserted through the skin, between two vertebrae, and into your spinal canal. An "opening" or initial pressure reading of the cerebrospinal fluid (CSF) is obtained. The healthcare practitioner then collects a small amount of CSF in multiple sterile vials. A "closing" pressure is obtained, the needle is withdrawn, and a sterile dressing and pressure are applied to the puncture site. You will then be asked to lie quietly in a flat position, without lifting your head, for one or more hours to avoid a potential post-test headache.

The lumbar puncture procedure usually takes less than half an hour. For most patients, it is a moderately uncomfortable procedure. The most common sensation is a feeling of pressure when the needle is introduced. Let your healthcare provider know if you experience a headache or any abnormal sensations, such as pain, numbness, or tingling in your legs, or pain at the puncture site.

The lumbar puncture is performed low in the back, well below the end of the spinal cord. There are spinal nerves in the location sampled, but they have room to move away from the needle. There is the potential for the needle to contact a small vein on the way in. This can cause a "traumatic tap," which just means that a small amount of blood may leak into one or more of the samples collected. While this is not ideal, it may happen a certain percentage of the time. The evaluation of your results will take this into account.

The extensive network of nodes, vessels, and ducts that collects lymph from tissues and carries it in one direction to the blood. Lymph is clear, watery fluid consisting of a number of substances including fat, protein and lymphocytes, the white blood cells that fight infections. Lymph and the lymphatic system serve to transport these substances, remove fluid and bacteria from tissues, and supply mature lymphocytes to the blood.

Leukocyte (white blood cell) that normally makes up about 25% of the total white blood cell count but can vary widely. Lymphocytes occur in two forms: B cells, which produce antibodies, and T cells, which recognize foreign substances and process them for removal.

Also known as hereditary nonpolyposis colon cancer or HNPCC.
An inherited condition that increases the risk of many types of cancer, especially colon cancer. People who inherit mutations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene have an increased risk of developing Lynch syndrome. Besides colon cancer, examples of other cancers associated with Lynch syndrome include cancers of the stomach, liver, bile ducts, brain, skin, ovaries and lining of the uterus (endometrium).

M

A large white blood cell (WBC) found in connective tissue, lymph nodes, spleen, bone marrow and other tissues; it is an important part of the body's immune system and helps fight infections by surrounding and ingesting disease-causing microorganisms.

A type of tissue cell found throughout the body but especially in connective tissue such as the skin, lining of the intestine and air passages as well as in the bone marrow. Mast cells contain granules that store chemicals. These chemicals are released as part of the body's normal response to injury but also may be released as part of an allergic response to exposure to an allergen. The chemicals that are released can cause the allergic signs and symptoms.

Abnormal accumulation of mast cells within one or more organs. Mast cells are a type of tissue cell found throughout the body that release chemicals as part of the body's normal response to injury but sometimes as part of an allergic response. Cutaneous mastocytosis is a benign disease of the skin, usually affecting children. Systemic mastocytosis affects mostly adults, who may experience signs and symptoms related to the organs affected such as skin rashes or characteristic red, blistering lesions, peptic ulcers, chronic diarrhea, joint pain or enlargement of the liver, spleen, or lymph nodes. Systemic mastocytosis may progress slowly or may be aggressive, causing organ dysfunction and, in rare cases, causing a form of leukemia.

Rare cancer of the membranes that cover the outside of internal organs and line body cavities, including the chest (pleural mesothelioma), abdominal cavity (peritoneal mesothelioma), and the heart (pericardial mesothelioma)

a birth defect in which a baby’s head is much smaller than expected and the brain is underdeveloped; this condition can occur because a baby's brain stops developing during pregnancy or stops growing after birth. A more serious, extreme form called severe microcephaly can occur during pregnancy when a baby's brain does not develop properly or begins to develop but then stops. Babies born with microcephaly can have several other issues, such as developmental delays, intellectual disabilities, hearing loss, problems with vision, and seizures.

Abnormal condition in which clones of a single plasma cell or B lymphocyte produce greatly increased amounts of an immunoglobulin molecule; analysis of serum or urine will show a distinct "monoclonal" band, typically in the "gamma" or beta region.

A diverse group of rod-shaped bacteria that include Mycobacterium tuberculosis (which causes tuberculosis) and Mycobacterium leprae (which causes leprosy) and more than 100 different species found in the environment; the environmental mycobacteria may be referred to as nontuberculous mycobacteria (NTM), mycobacteria other than tuberculosis (MOTT), and/or atypical mycobacteria.

1. Pertaining to the interaction between the nervous system and glands that produce hormones 2. Relating to or involving cells that produce hormones in response to the stimulation of nerves or the nervous system

A type of laboratory test method that rapidly sequences large amounts of DNA; sequencing determines the order of DNA building blocks (nucleotides) in a person's genetic code. Changes in the building blocks (mutations) in the regions of DNA that are responsible for making proteins can lead to genetic disorders. Next-gen sequencing can look for mutations in any of the protein-producing regions of DNA, instead of looking for just a few specific mutations. In healthcare, this method may be used to help identify inherited or acquired genetic diseases (e.g., cancers), especially those caused by less common mutations.

Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) are a group of painkillers that includes drugs such as ibuprofen and aspirin; they reduce fever as well as decrease pain and inflammation; can cause side effects such as stomach ulcers.

O

Genetic material that is able to produce a malignant change in a cell; several have been identifited in human tissue as potential causes of cancer. Certain oncogenes may play a role in normal growth and development; if they are damaged or mutated, cancer may result.

P

1) The most common use of the term refers to a bone disorder in which bone is formed and broken down excessively, resulting in weakened bones. This condition can cause bone pain, deformed bones, arthritis, and numerous fractures.

2) Other, less common uses of the term refer to rare forms of cancer involving the nipple of the breast or the skin of other areas such as the perianal region, penis, or vulva (also termed extramammary).

tumor that releases excess hormones called catecholamines (e.g., dopamine, epinephrine (adrenaline), norepinephrine and their metabolites, such as metanephrines) and usually occurs somewhere in the abdomen but outside the adrenal glands

One of the four major groups of microorganisms (bacteria, viruses, fungi, and parasites) that may live freely in nature, live on another organism without harming it, or live at the expense of the host organism

A physician who diagnoses and characterizes disease by examining a patient’s tissues, blood, and other body fluids. Pathologists work in two broad areas:

Anatomic pathology is the examination of the physical appearance and microscopic structure of tissues. Anatomic pathologists look at biopsies and organs removed at surgery (surgical pathology) as well as cells that are collected from brushings or body fluids (cytology). They also perform autopsies to investigate the cause of death (autopsy pathology).

Clinical pathology deals with the measurement of chemical constituents of blood and other body fluids (clinical chemistry), analysis of blood cells (hematology), identification of microorganisms (microbiology), and the collection, preparation and use of blood for transfusion (transfusion medicine). Clinical pathologists direct the laboratories that perform these tests and provide consultation to other doctors on the significance of test results.

Measurement of the acidity or alkalinity of a substance. A pH of 7.0 is neutral. A substance with a pH less than 7.0 is an acid, with increasing acidity as the pH decreases toward zero. Likewise, a substance with a pH greater than 7.0 is a base (alkali), with increasing alkalinity as the pH moves toward 14.0.

tumor located in one or both of the adrenal glands that releases excess hormones called catecholamines (e.g., dopamine, epinephrine (adrenaline), norepinephrine and their metabolites, such as metanephrines)

A substance in the body that contains both lipid (fat) and phosphorous; phospholipids are found in all cells throughout the body because they are a major component of the cell membrane, the outermost layer of a cell.

Pea-sized gland located in the center of the head behind the sinus cavity at the base of the brain; the pituitary consists of two parts that produce different hormones: 1) in the anterior portion, growth hormone (GH), adrenocorticotropin (ACTH), thyroid-stimulating hormone (TSH), lutenizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin (PRL) are produced; 2) in the posterior portion, oxytocin and antidiuretic hormone (ADH) (produced in the hypothalamus) are stored for release.

The organ that connects a pregnant woman with her developing baby in the uterus; blood from the mother and baby do not mix directly, but a thin membrane within the placenta allows nutrients from the mother to pass to the baby and waste products to pass from the baby to the mother for elimination.

An infectious agent (not bacteria or virus) that is an irregular form of a normal protein; prion proteins cause a variety of infections, including Mad Cow Disease and Creutzfeld-Jacob disease. Prion proteins are thought to induce normal brain proteins to assume an irregular shape, rendering them dysfunctional.

Quantity testing measures how much of a particular substance or analyte is present. This type of testing can measure amounts of coagulation factors, hormones, enzymes, and many other substances. It does not, however, evaluate how well the substance is working or performing its role in the body.

R

A sample of urine collected at any time of the day; this type of sample may be used to detect the presence of various substances in the urine at one particular point in the day. Often, no special handling is required with these samples. Other types of urine samples are requested when special types of evaluations are required (see 24-hour urine sample and timed urine sample).

Intermittent episodes of pallor, cyanosis (bluing), and redness in the fingers or toes due to constricted blood vessels; it is seen with a variety of conditions and is precipitated by exposure to cold and emotional stress. It may cause numbness, tingling, and burning.

A rare condition that causes degeneration of the brain and is characterized by vomiting, fever, accumulation of fat in the liver, swelling of kidneys and brain, disorientation and coma; often occurs in children and following another illness, such as the flu or chickenpox.

Condition resulting from an inadequately treated or untreated infection with Group A streptococcus bacteria. It is a delayed immune response in which the body produces antibodies directed against itself (autoimmune). This can cause serious damage to heart valves and lead to symptoms such as swelling and pain in several joints, heart inflammation (carditis), skin nodules, rapid, jerky movements (Sydenham's chorea), and skin rash.

A condition that occurs in childhood in which a severe lack of vitamin D causes weak, soft bones, delayed growth and skeletal development; when this condition occurs in adulthood, it is called osteomalacia.

S

In the clinical laboratory:
1. a test's ability to correctly identify individuals who have a given disease or disorder;
2. ability of a test to detect small amounts of a substance or to measure a reaction

An allergic reaction to proteins in a foreign serum, usually in response to an injection; it is characterized by symptoms such as fever, skin rash, pain and swelling in one or more joints, and kidney damage

A condition in which blood flow is inadequate to keep critical organs performing properly; it is often recognized by markedly low blood pressure with evidence of poor function of the brain, kidneys, heart, and/or liver. It is a medical emergency that can lead to serious damage and/or death.

A rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities; it is the second most common cause of inherited pancreatic insufficiency after cystic fibrosis.

An iron disorder and form of anemia resulting from the inability to incorporate iron into hemoglobin in red blood cells (RBCs); it is characterized by the buildup of iron within developing RBCs resulting in abnormal RBCs called sideroblasts. Since the RBCs cannot develop normally, this condition causes anemia.

In the clinical laboratory: 1. a test's ability to correctly exclude individuals who do not have the given disease or disorder; 2. a test's ability to correctly detect or measure only the substance of interest and exclude other substances

A birth defect in which the bones of the spine do not close around the spinal cord (the continuation of brain tissue that normally is surrounded by the spinal bones); this opening may be covered by skin (also called spina bifida occulta, which means hidden), in which case there may be no or mild symptoms. In other cases, the skin does not cover the defect, allowing the covering of the brain and spinal cord, the meninges, to protrude out through the skin (meningocele) or, in some cases, to rupture, exposing the spinal cord itself (meningomyelocyle). These latter two examples may cause severe damage to the nerves of the legs and lower abdomen, causing paralysis and bowel and bladder malfunction.

1. Small, usually single-celled reproductive unit of some microorganisms such as fungi.
2. Form assumed by some bacteria that is resistant to heat, drying, and chemicals; an example of a disease caused by spore-forming bacteria is anthrax.

Viscous material that is derived from the lower air passages such as the lungs and bronchi that may contain substances such as mucus, blood, pus and/or bacteria; it is not the saliva that is produced by the glands in the mouth.

In medicine, a defined period or phase in the development, progress or extent of a disease or condition; the process of determining the period or phase of a disease or condition. In cancer, the stage is the degree to which the cancer has grown or spread. Generally, lower numbers and/or letters mean less extensive stages.

A group of chemicals derived from cholesterol that typically functions as hormones; common types of steroids include sex steroids (estrogen, progesterone, testosterone), glucocorticosteroids (cortisol, prednisone, dexmethasone), and mineralacorticosteroids (aldosterone).

Organ located behind the upper breastbone at the base of the neck that is part of the lymphatic and immune systems; disease-fighting white blood cells called T-cells develop and mature in the thymus before entering circulation. In humans, the thymus is normally active in childhood but becomes less active after puberty, eventually losing most immune activity by adulthood.

A sample of urine collected over a specified period of time; for a short collection (2 hours), you may be asked to do this at the laboratory. For longer collections (such as 12 hours or 24 hours), you will do this at home. At the beginning of the time period, empty your bladder and discard that urine. Note the time. Collect all urine voided for the specified period of time in the container provided. At the end of the time period, empty your bladder and ADD this urine to the container. Note the time. Bring all of the urine collected to the lab or doctor's office. If you miss collecting one or more voids, consult your doctor or the laboratory for further instructions. (See 24-hour urine sample)

In the clinical laboratory, titer is a unit of measurement. It is most often thought of as the lowest dilution of a substance in which a reaction takes place. It is usually expressed as a ratio (i.e., 1:20). For example, serum containing an antibody can be diluted with saline in a serial manner producing dilutions 1:5, 1:10, 1:20, 1:40, etc. If the lowest dilution that a reaction can still be detected between the antibody and the antigen it is directed against is 1:20, then that is the result of the antibody titer.

A condition during pregnancy characterized by high blood pressure, protein in the urine, and fluid retention. If untreated, it can lead to eclampsia and convulsions that can be life-threatening to the mother and baby.

Generally, anything that injures, is destructive, or can cause death; specifically, a poisonous substance made within living cells or organisms (plants or animals); may also include some medicines if taken in large amounts and certain metals

Fluid that has leaked into a body cavity, due to an imbalance between the pressure within blood vessels (which drives fluid out) and the amount of protein in blood (which keeps fluid in); it is a clear fluid with low protein concentration and a limited number of white blood cells.

A long, thin hollow tube; in the kidney, a structure that connects to the glomerulus and helps the kidney retain needed small substances (such as water, electrolytes, glucose, calcium) while allowing elimination of waste products. Its contents eventually drain into the collecting system of the kidney as urine.

A disorder involving the X chromosomes in females. Normally, there are two functioning X chromosomes in every cell in the female body. In Turner syndrome, one of the X chromosomes is missing or is abnormal, or there are two normal X chromosomes present but in only some of the cells. Women with Turner syndrome usually have underdeveloped female sexual characteristics.

U

an independent, volunteer panel of health professionals and experts. It regularly reviews the latest scientific evidence, such as research studies, to develop and update recommendations on various preventive services. The panel issues the findings as draft documents open for public comment before officially adopting them. The USPSTF is convened by the Agency for Healthcare Research and Quality (AHRQ) as authorized by the U.S. Congress.

A chronic disease of unknown cause that is characterized by inflammation, ulcers, and fluid collection in the lining of the colon; this condition may cause diarrhea with blood and/or mucus and stomach cramping and pain.

Protein shapes formed in the kidney tubules and released into the urine; they are roughly cylindrical with rounded ends and may have other components embedded in them such as red blood cells. Casts can be a sign of kidney disease.

Painful swelling and irritation of the uvea, the middle layer of the eye (the layer just beneath the white of the eye), which causes redness without itching; it is a serious condition that can lead to loss of vision.

A microorganism consisting of a nucleic acid (either DNA or RNA) core and a protein coat. A virus requires a host cell to reproduce. It reproduces by infecting a host cell and taking over the nucleic acid of that host cell, making more virus nucleic acid and protein.

Any of a group of substances that, in very small amounts, are essential for normal growth, development, and metabolism. They cannot be synthesized in the body (with a few exceptions) and must be supplied by the diet.

X

A genetic trait that is apparent when all copies of the X-chromosome possess the gene; in men, this occurs when they inherit the trait from their mother, while women must inherit the trait from both parents. For this reason, X-linked recessive traits are almost always apparent only in men, while women are more commonly carriers of the trait.